P. Bénit

发表

Mitochondria and diabetes mellitus: untangling a conflictive relationship?

P. Bénit, P. Rustin, S. Loublier, 2009, Journal of Inherited Metabolic Disease.

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

P. Bénit, A. Munnich, P. Rustin, 2004, Journal of Medical Genetics.

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome

P. Bénit, A. Munnich, P. Rustin, 2003, Human Genetics.

Distinctive Krebs cycle remodeling in iPSC-derived neural and mesenchymal stem cells.

P. Bénit, P. Rustin, Malgorzata Rak, 2019, Biochemical and biophysical research communications.

In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin

P. Bénit, F. Artiguenave, G. Charpentier, 2015, Molecular therapy. Nucleic acids.

Developmental aspects of respiratory chain from fetus to infancy.

P. Bénit, P. Rustin, N. Soussi-Yanicostas, 2011, Seminars in fetal & neonatal medicine.

Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

P. Bénit, V. Tiranti, H. Prokisch, 2019, Orphanet Journal of Rare Diseases.

Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy.

P. Bénit, J. Sahel, P. Rustin, 2012, Brain : a journal of neurology.

AIF deficiency compromises oxidative phosphorylation

P. Bénit, G. Kroemer, N. Debili, 2004, The EMBO journal.

SDH mutations establish a hypermethylator phenotype in paraganglioma.

P. Bénit, E. Letouzé, P. Rustin, 2013, Cancer cell.

Succinate Dehydrogenase, Succinate, and Superoxides: A Genetic, Epigenetic, Metabolic, Environmental Explosive Crossroad

P. Bénit, P. Rustin, A. Gimenez-Roqueplo, 2022, Biomedicines.

Mitochondrial cytochrome c oxidase deficiency.

P. Bénit, P. Rustin, Malgorzata Rak, 2016, Clinical science.

Mouse Studies to Shape Clinical Trials for Mitochondrial Diseases: High Fat Diet in Harlequin Mice

P. Bénit, P. Rustin, M. Schiff, 2011, PloS one.

The Variability of the Harlequin Mouse Phenotype Resembles that of Human Mitochondrial-Complex I-Deficiency Syndromes

P. Bénit, P. Rustin, E. Dassa, 2008, PloS one.

Respiratory-chain diseases related to complex III deficiency.

P. Bénit, P. Rustin, S. Lebon, 2009, Biochimica et biophysica acta.

The Electron Transport Chain and Carcinogenesis

P. Bénit, P. Rustin, J. Brière, 2009 .

BH3 mimetics activate multiple pro-autophagic pathways

P. Bénit, E. Morselli, A. Criollo, 2011, Oncogene.

The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas

P. Bénit, P. Rustin, X. Jeunemaître, 2009, PloS one.

Denaturing high‐performance liquid chromatography (DHPLC)‐based prenatal diagnosis for tuberous sclerosis

P. Bénit, A. Munnich, P. Ray, 2001, Prenatal diagnosis.

Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

P. Bénit, A. Munnich, J. Bonnefont, 2000, Human mutation.

Targeted Deletion of AIF Decreases Mitochondrial Oxidative Phosphorylation and Protects from Obesity and Diabetes

P. Bénit, C. Kahn, I. Ebersberger, 2007, Cell.

Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development.

P. Bénit, P. Rustin, M. Schiff, 2010, Trends in molecular medicine.

Muscle-Specific Loss of Apoptosis-Inducing Factor Leads to Mitochondrial Dysfunction, Skeletal Muscle Atrophy, and Dilated Cardiomyopathy

P. Bénit, G. Kroemer, P. Rustin, 2005, Molecular and Cellular Biology.

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

L. Hertz-Pannier, P. Rustin, A. Rötig, 2003, Journal of medical genetics.

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

P. Bénit, A. Munnich, P. Rustin, 2003, Human mutation.

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

P. Bénit, A. Munnich, P. Rustin, 2001, American journal of human genetics.

Longevity-relevant regulation of autophagy at the level of the acetylproteome

P. Bénit, Nektarios Tavernarakis, C. López-Otín, 2011, Autophagy.

Spermidine and resveratrol induce autophagy by distinct pathways converging on the acetylproteome

P. Bénit, Nektarios Tavernarakis, C. López-Otín, 2011, The Journal of cell biology.

Atrophy , and Dilated Cardiomyopathy Mitochondrial Dysfunction , Skeletal Muscle Apoptosis-Inducing Factor Leads to Muscle-Specific Loss of

P. Bénit, G. Kroemer, P. Rustin, 2005 .

Muscle-Speciﬁc Loss of Apoptosis-Inducing Factor Leads to Mitochondrial Dysfunction, Skeletal Muscle Atrophy, and Dilated Cardiomyopathy

P. Bénit, G. Kroemer, P. Rustin, 2005 .

Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly.

P. Bénit, J. Oury, P. Gressens, 2020, Cell reports.

CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10

P. Bénit, P. Rustin, S. Frank, 2018, Human molecular genetics.

Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice

P. Bénit, P. Rustin, T. Wai, 2015, Science.

Alternative Oxidase Expression in the Mouse Enables Bypassing Cytochrome c Oxidase Blockade and Limits Mitochondrial ROS Overproduction

P. Bénit, H. Jacobs, P. Gressens, 2013, PLoS genetics.

The complete DNA sequence of yeast chromosome III

B. Dujon, S. Oliver, Q. V. D. Aart, 1992, Nature.

SDHA is a tumor suppressor gene causing paraganglioma.

P. Bénit, P. Rustin, X. Jeunemaître, 2010, Human molecular genetics.

Mitochondrial complex I deficiency of nuclear origin I. Structural genes.

P. Bénit, P. Rustin, A. Legrand, 2012, Molecular genetics and metabolism.

Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.

P. Bénit, P. Rustin, Malgorzata Rak, 2012, Molecular genetics and metabolism.

Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits.

P. Bénit, A. Munnich, P. Rustin, 2002, Molecular genetics and metabolism.

Mitochondrial temperature homeostasis resists external metabolic stresses

T. Ihalainen, H. Jacobs, P. Rustin, 2023, bioRxiv.

Cyanide resistant respiration and the alternative oxidase pathway: A journey from plants to mammals.

P. Bénit, H. Jacobs, P. Rustin, 2022, Biochimica et biophysica acta. Bioenergetics.

Life with or without AIF.

K. Blomgren, G. Kroemer, E. Hangen, 2010, Trends in biochemical sciences.

Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.

P. Bénit, Changlian Zhu, K. Blomgren, 2015, Molecular cell.

Rapid determination of tricarboxylic acid cycle enzyme activities in biological samples

P. Rustin, E. Dassa, A. Gimenez-Roqueplo, 2010, BMC Biochemistry.

Relevance of the TRIAP1/p53 axis in colon cancer cell proliferation and adaptation to glutamine deprivation

P. Bénit, P. Gestraud, B. Colsch, 2022, Frontiers in Oncology.

Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy

P. Bénit, P. Rustin, T. Langer, 2018, The EMBO journal.

Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal.

P. Bénit, P. Rustin, J. Penninger, 2006, Proceedings of the National Academy of Sciences of the United States of America.

Mitochondria are physiologically maintained at close to 50 °C

P. Bénit, H. Jacobs, P. Rustin, 2017, bioRxiv.

Succinate dehydrogenase deficiency in human

P. Bénit, P. Rustin, J. Favier, 2005, Cellular and Molecular Life Sciences CMLS.

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.

P. Bénit, G. Gyapay, J. Weissenbach, 2002, Human molecular genetics.

IV. Yeast sequencing reports. Sequence of the PHO2‐POL3 (CDC2) region of chromosome IV of Saccharomyces cerevisiae

P. Bénit, G. Faye, M. Simon, 1994 .

DNA Polymerase δ (POL3) of Saccharomyces cerevisiae

P. Bénit, F. Fabre, G. Faye, 1992 .

The environmental carcinogen benzo[a]pyrene induces a Warburg-like metabolic reprogramming dependent on NHE1 and associated with cell survival

P. Bénit, L. Huc, D. Lagadic-Gossmann, 2016, Scientific Reports.

Acute and chronic mitochondrial respiratory chain deficiency differentially regulate lysosomal biogenesis

P. Bénit, P. Rustin, L. C. López, 2017, Scientific Reports.

Therapies in inborn errors of oxidative metabolism

P. Bénit, H. Jacobs, P. Rustin, 2012, Trends in Endocrinology & Metabolism.

Mutations of the TWIST gene in the Saethre-Chotzene syndrome

P. Bénit, A. Munnich, J. Bonaventure, 1997, Nature Genetics.

The molecular archaeology of a mitochondrial death effector: AIF in Drosophila

P. Bénit, G. Kroemer, P. Rustin, 2008, Cell Death and Differentiation.

Loss of SDHB Promotes Dysregulated Iron Homeostasis, Oxidative Stress, and Sensitivity to Ascorbate

P. Bénit, E. Letouzé, A. Morin, 2021, Cancer Research.

S6 kinase deletion suppresses muscle growth adaptations to nutrient availability by activating AMP kinase.

P. Bénit, B. Viollet, P. Rustin, 2007, Cell metabolism.

Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group

F. Rivier, P. Rustin, J. Rivière, 2019, European Journal of Human Genetics.

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

P. Bénit, J. Harper, J. Paulo, 2016, eLife.

Unsuspected task for an old team: succinate, fumarate and other Krebs cycle acids in metabolic remodeling.

P. Bénit, E. Letouzé, P. Rustin, 2014, Biochimica et biophysica acta.

The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.

P. Bénit, A. Munnich, V. Abadie, 1999, Molecular genetics and metabolism.

Mitochondria are physiologically maintained at close to 50 ̊C

P. Bénit, H. Jacobs, P. Rustin, 2018 .

Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits.

P. Bénit, J. Sahel, P. Rustin, 2007, Rejuvenation research.

From Nf1 to Sdhb knockout: Successes and failures in the quest for animal models of pheochromocytoma

P. Bénit, P. Rustin, J. Trapman, 2016, Molecular and Cellular Endocrinology.

Actinomycin D Targets NPM1c-Primed Mitochondria to Restore PML-Driven Senescence in AML Therapy

P. Bénit, T. Mak, J. Soulier, 2021, Cancer discovery.

An Effective, Versatile, and Inexpensive Device for Oxygen Uptake Measurement

P. Rustin, Malgorzata Rak, D. Chrétien, 2017, Journal of clinical medicine.

Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas

P. Bénit, B. Tavitian, P. Rustin, 2019, European Journal of Nuclear Medicine and Molecular Imaging.

In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma

P. Bénit, B. Tavitian, C. Cuénod, 2015, Clinical Cancer Research.

Evolutionarily conserved susceptibility of the mitochondrial respiratory chain to SDHI pesticides and its consequence on the impact of SDHIs on human cultured cells

P. Bénit, P. Gressens, L. Huc, 2019, PloS one.

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

P. Bénit, P. Rustin, V. El Ghouzzi, 2005, Human molecular genetics.

Changing the diet to make more mitochondria and protect the heart.

P. Bénit, P. Rustin, P. Bénit, 2012, Circulation research.

The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes.

P. Bénit, J. Sahel, P. Rustin, 2008, Biochimica et biophysica acta.

miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

P. Bénit, D. Israeli, L. Servais, 2020, Scientific Reports.

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

P. Bénit, A. Munnich, L. Hertz-Pannier, 2003, Journal of medical genetics.

A brain-specific isoform of mitochondrial apoptosis-inducing factor: AIF2

P. Bénit, C. Culmsee, K. Blomgren, 2010, Cell Death and Differentiation.

KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.

P. Bénit, A. Mégarbané, P. Rustin, 2013, Human molecular genetics.

Pitfalls in Monitoring Mitochondrial Temperature Using Charged Thermosensitive Fluorophores

P. Bénit, P. Rustin, G. Lenaers, 2020, Chemosensors.